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JCU 1995 ;3(2) :209-215.
A Case of Turner's Syndrome(46, XXqi) Associated with Large Atrial Septal Defect and Mitral Valve Prolapse
Jung Cheul Baek, Wan Kim, Heon Suk Kang, Soong Lee, Jae Il Meong, Gwang Chae Gill, Joo Hyung Park, jeong Gwan Cho, Jong Chun Park, Jung Chaee Kang
Department of Intarnal Medicine, Kwang ju Veterans Hospital, Kwangju, Korea. Department of Intarnal Medicine, Chonnam National University Medical School, Kwangju, Korea
ABSTRACT
We descrive a 23-year-old female of 46, XXqi Turner's syndrome associated with large atrial sepatal defect(secundum type) and mitral valve prolapse who was admitted due to amenorrhea, sexual infantilism and exertional dyspnea. This patient had only one spontaneous menstrual period at the age of 15 and had a short stature without webbed neck. Chromosomal aberrations cause primarily structural defects of cardiovasculaqr system, and a variety of structural aberrations involving the X chromosome and cause partial or complete Turner's syndrome. In Turner's syndrome, bicuspid aortic valve or coarctaton of aorta is frequently combined, also aortic root dilatation, partial anomalous venous drainage, hypoplastic left heart and ventricular septal defect, atrial septal defect has been reported. However, this patient had not abnormalities in aortic valve and whole aorta. Atrial septal defect simultaneously with mitral valve prolapse in 46 XXqi Turner's syndrome have not been reported in Korea. We report this case with a brief review of the literature.
Keywords: Turner's syndrom(46 XXqi), Atrial septal defect, Mitral valve prolapse
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